Variant report

Variant	rs543268397
Chromosome Location	chr2:98280912-98280913
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:509)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:509 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GTF2F1	chr2:98280564-98281429	Hela-S3	cervix:	n/a	n/a
2	NFYB	chr2:98280359-98280946	GM12878	blood:	n/a	chr2:98280521-98280536 chr2:98280521-98280536
3	CTCF	chr2:98280840-98280990	HFF-Myc	foreskin:	n/a	n/a
4	POLR2A	chr2:98278939-98281047	HepG2	liver:	n/a	n/a
5	YY1	chr2:98280752-98281241	K562	blood:	n/a	n/a
6	IRF1	chr2:98279227-98281284	K562	blood:	n/a	chr2:98280508-98280522 chr2:98279778-98279792 chr2:98280584-98280598 chr2:98280523-98280532
7	EP300	chr2:98280437-98281213	A549	lung:	n/a	chr2:98280558-98280574 chr2:98280559-98280575
8	CTCF	chr2:98280860-98281010	GM12870	blood:	n/a	n/a
9	FOSL2	chr2:98280386-98280973	MCF-7	breast:	n/a	chr2:98280407-98280416 chr2:98280411-98280420
10	ELF1	chr2:98280446-98281074	MCF-7	breast:	n/a	n/a
11	CTCF	chr2:98280880-98281030	Hela-S3	cervix:	n/a	n/a
12	CTCFL	chr2:98280807-98281076	K562	blood:	n/a	n/a
13	TBP	chr2:98279760-98281425	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr2:98279079-98281239	GM19099	blood:	n/a	n/a
15	CEBPB	chr2:98280877-98281276	K562	blood:	n/a	n/a
16	CTCF	chr2:98280900-98281050	HCT-116	colon:	n/a	n/a
17	CTCF	chr2:98280753-98281106	GM19238	blood:	n/a	n/a
18	CTCF	chr2:98280900-98281050	NB4	blood:	n/a	n/a
19	CTCF	chr2:98280900-98281050	HBMEC	blood vessel:	n/a	n/a
20	POLR2A	chr2:98279814-98280949	A549	lung:	n/a	n/a
21	CTCF	chr2:98280880-98281030	GM12868	blood:	n/a	n/a
22	POLR2A	chr2:98279822-98281088	HCT-116	colon:	n/a	n/a
23	SRF	chr2:98280425-98280937	ECC-1	luminal epithelium:	n/a	chr2:98280513-98280523
24	JUND	chr2:98280508-98281180	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr2:98280735-98281126	K562	blood:	n/a	n/a
26	ELF1	chr2:98280443-98281015	GM12878	blood:	n/a	n/a
27	SIN3AK20	chr2:98280240-98281289	MCF-7	breast:	n/a	n/a
28	CTCF	chr2:98280880-98281030	GM12878	blood:	n/a	n/a
29	POLR2A	chr2:98279428-98281127	MCF-7	breast:	n/a	n/a
30	CTCF	chr2:98280880-98281030	GM12869	blood:	n/a	n/a
31	CTCF	chr2:98280732-98281104	MCF-7	breast:	n/a	n/a
32	EP300	chr2:98280541-98281392	GM12878	blood:	n/a	chr2:98280558-98280574 chr2:98280559-98280575
33	FOSL2	chr2:98280166-98280953	HepG2	liver:	n/a	chr2:98280407-98280416 chr2:98280411-98280420 chr2:98280223-98280232
34	RELA	chr2:98279075-98281449	GM15510	blood:	n/a	n/a
35	REST	chr2:98280510-98281097	H1-neurons	neurons:	n/a	n/a
36	EP300	chr2:98280569-98281633	K562	blood:	n/a	n/a
37	PAX5	chr2:98280410-98281021	GM12878	blood:	n/a	n/a
38	POLR2A	chr2:98279175-98281003	GM15510	blood:	n/a	n/a
39	POLR2A	chr2:98278878-98281363	K562	blood:	n/a	n/a
40	PML	chr2:98280431-98280982	MCF-7	breast:	n/a	n/a
41	GTF3C2	chr2:98280753-98281488	Hela-S3	cervix:	n/a	n/a
42	ELF1	chr2:98280432-98280953	HepG2	liver:	n/a	n/a
43	CTCF	chr2:98280880-98281030	AG04449	skin:	n/a	n/a
44	CTCF	chr2:98280880-98281030	GM12867	blood:	n/a	n/a
45	ATF2	chr2:98280422-98281058	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr2:98277968-98281074	GM12892	blood:	n/a	n/a
47	MYBL2	chr2:98280367-98281197	HepG2	liver:	n/a	n/a
48	BACH1	chr2:98280652-98281070	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr2:98279086-98281133	GM18951	blood:	n/a	n/a
50	MYC	chr2:98279116-98281408	NB4	blood:	n/a	chr2:98280224-98280234 chr2:98279386-98279396

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:98205848..98207835-chr2:98279004..98283186,3	MCF-7	breast:
2	chr2:98206110..98207769-chr2:98279652..98281540,2	K562	blood:
3	chr2:98280397..98281205-chr6:170151172..170151729,2	Hela-S3	cervix:
4	chr2:98279098..98281561-chr2:98304916..98307735,3	MCF-7	breast:
5	chr2:98279310..98282281-chr2:98310556..98313961,3	MCF-7	breast:
6	chr2:98279912..98282586-chr2:98290130..98292098,3	K562	blood:
7	chr12:52444633..52445269-chr2:98280481..98281231,2	Hela-S3	cervix:
8	chr2:98279581..98281603-chr2:98351078..98353477,2	K562	blood:
9	chr2:98278667..98281978-chr2:98283382..98286512,4	K562	blood:
10	chr2:98278665..98281371-chr2:98305087..98308005,4	MCF-7	breast:
11	chr17:37360262..37360780-chr2:98280277..98281092,2	Hela-S3	cervix:
12	chr2:98279513..98282179-chr2:98292256..98296228,3	MCF-7	breast:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZAP70-2	chr2:98280680-98280935	ENSG00000228486.2
2	lnc-ZAP70-2	chr2:98280702-98280935	ENSG00000228486.5
3	lnc-ZAP70-2	chr2:98280702-98280935	ENSG00000228486.5
4	lnc-ZAP70-2	chr2:98280710-98280935	ENSG00000228486.5
5	lnc-ZAP70-2	chr2:98280748-98282910	NONHSAT072664
6	lnc-ZAP70-2	chr2:98280710-98280935	ENSG00000228486.5
7	lnc-ZAP70-2	chr2:98280724-98280935	ENSG00000228486.5
8	lnc-ZAP70-2	chr2:98280735-98280935	ENSG00000228486.5
9	lnc-ZAP70-2	chr2:98280724-98280935	ENSG00000228486.5
10	lnc-ZAP70-2	chr2:98280702-98280935	ENSG00000228486.5

No data

Variant related genes	Relation type
LINC01125	TF binding region
ACTR1B	TF binding region
ENSG00000130023	Chromatin interaction
ENSG00000123358	Chromatin interaction
ENSG00000184786	Chromatin interaction
ENSG00000196912	Chromatin interaction
ENSG00000228486	Chromatin interaction
ENSG00000108298	Chromatin interaction
ENSG00000115085	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757819	chr2:97571109-98336507	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
2	esv2759077	chr2:97571109-98336507	Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
3	nsv431402	chr2:97669032-98281634	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
4	nsv1005846	chr2:97972600-98281634	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv1009263	chr2:98013814-98281634	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	esv1829350	chr2:98170405-98315611	Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv531382	chr2:98250628-98457616	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	esv3435324	chr2:98279520-98282118	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98278600-98281600	Active TSS	H9 Cell Line	embryonic stem cell
2	chr2:98278800-98281400	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr2:98279000-98281400	Active TSS	Ovary	ovary
4	chr2:98279000-98281400	Active TSS	Psoas Muscle	Psoas
5	chr2:98279200-98281200	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr2:98279200-98281200	Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr2:98279200-98281200	Active TSS	Sigmoid Colon	Sigmoid Colon
8	chr2:98279200-98281400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:98279200-98281400	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr2:98279200-98281400	Active TSS	Left Ventricle	heart
11	chr2:98279200-98281400	Active TSS	GM12878-XiMat	blood
12	chr2:98279200-98281400	Active TSS	NHLF	lung
13	chr2:98279200-98281600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:98279200-98281600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:98279200-98281800	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr2:98279200-98281800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:98279200-98281800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:98279400-98281200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
19	chr2:98279400-98281200	Active TSS	Primary T killer memory cells from peripheral blood	blood
20	chr2:98279400-98281200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:98279400-98281200	Active TSS	Aorta	Aorta
22	chr2:98279400-98281200	Active TSS	Colon Smooth Muscle	Colon
23	chr2:98279400-98281400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:98279400-98281400	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr2:98279400-98281400	Active TSS	Lung	lung
26	chr2:98279400-98281400	Active TSS	NHDF-Ad	bronchial
27	chr2:98279400-98281600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr2:98279400-98281600	Active TSS	Right Ventricle	heart
29	chr2:98279400-98281600	Active TSS	HSMM	muscle
30	chr2:98279400-98281800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:98279400-98281800	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr2:98279400-98282000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:98279600-98281000	Active TSS	Gastric	stomach
34	chr2:98279600-98281000	Active TSS	Spleen	Spleen
35	chr2:98279600-98281200	Active TSS	Brain Hippocampus Middle	brain
36	chr2:98279600-98281200	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr2:98279600-98281200	Active TSS	Small Intestine	intestine
38	chr2:98279600-98281400	Active TSS	Esophagus	oesophagus
39	chr2:98279600-98281400	Active TSS	Fetal Intestine Large	intestine
40	chr2:98279600-98281400	Active TSS	Placenta Amnion	Placenta Amnion
41	chr2:98279600-98281400	Active TSS	A549	lung
42	chr2:98279600-98281600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr2:98279600-98281600	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr2:98279600-98281600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr2:98279600-98281600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr2:98279600-98281600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr2:98279600-98281600	Active TSS	Pancreas	Pancrea
48	chr2:98279800-98281000	Active TSS	Primary B cells from peripheral blood	blood
49	chr2:98279800-98281000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr2:98279800-98281000	Active TSS	Primary T killer naive cells fromperipheralblood	blood

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